Baron M, Risch N, Hamburger R, Mandel B, Kushner S, Newman M, Drumer D, Belmaker R H
Nature. 1987;326(6110):289-92. doi: 10.1038/326289a0.
A pedigree study shows close linkage of bipolar affective illness (manic depression) to the X-chromosome markers colour blindness and glucose-6-phosphate dehydrogenase deficiency. The maximum lod score ranges from 7.52 (assuming homogeneity) to 9.17 (assuming heterogeneity); that is, the odds in favour of linkage range between 3 X 10(7) to 1 and 10(9) to 1. These results provide confirmation that a major psychiatric disorder can be caused by a single genetic defect. As a possible first step in characterizing the primary genetic abnormality, this finding may have important implications for the aetiology, nosology, pathophysiology and, possibly, prevention and treatment of bipolar affective disorder. It also provides a means for identifying and characterizing homogeneous populations of patients and may help in clarifying aetiological heterogeneity.
一项系谱研究表明，双相情感障碍（躁狂抑郁症）与X染色体标记红绿色盲和葡萄糖-6-磷酸脱氢酶缺乏症紧密连锁。最大对数优势分数范围从7.52（假设基因座同质）到9.17（假设基因座异质）；也就是说，支持连锁的几率在3×10⁷比1到10⁹比1之间。这些结果证实了一种主要的精神障碍可能由单一基因缺陷引起。作为表征原发性基因异常的可能第一步，这一发现可能对双相情感障碍的病因学、疾病分类学、病理生理学以及可能的预防和治疗具有重要意义。它还提供了一种识别和表征同质患者群体的方法，并可能有助于阐明病因学异质性。
